CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

OBJECTIVE: To determine the frequency of mutations in CDKL5 in both male and female patients with infantile spasms or early onset epilepsy of unknown cause, and to consider whether the breadth of the reported phenotype would be extended by studying a different patient group. METHODS: Two groups of p...

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Main Authors: Archer, H L, Evans, J, Edwards, S, Colley, J, Newbury‐Ecob, R, O'Callaghan, F, Huyton, M, O'Regan, M, Tolmie, J, Sampson, J, Clarke, A, Osborne, J
Format: Artigo
Jezik:Inglês
Izdano: BMJ Group 2006
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Original Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564572/
https://ncbi.nlm.nih.gov/pubmed/16611748
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.041467
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